Novel <i>SCN5A</i> p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Novel <i>SCN5A</i> p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful...

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Bibliographic Details
Main Authors: Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Ilaria Rivolta, Valeria Borrelli, Andrea Ghiroldi, Sara D’Imperio, Anna Binda, Dario Melgari, Sara Benedetti, Predrag Mitrovic, Luigi Anastasia, Valerio Mecarocci, Žarko Ćalović, Giorgio Casari, Carlo Pappone
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
Brugada syndrome
sudden cardiac death
genetic testing
<i>SCN5A</i>
risk stratification
variant
Online Access:https://www.mdpi.com/1422-0067/22/9/4700

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https://www.mdpi.com/1422-0067/22/9/4700

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